Linked Data
ClinVar Variation Id:
451214
ClinVar RCV Id:
RCV000519576
dbSNP Id:
rs371292311
gnomAD v3:
5-128464878-C-T
gnomAD v4:
5-128464878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128464878C>T , CM000667.2:g.128464878C>T | GRCh38 |
| NC_000005.9:g.127800571C>T , CM000667.1:g.127800571C>T | GRCh37 |
| NC_000005.8:g.127828470C>T | NCBI36 |
| NG_008750.1:g.78165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.672G>A | ENSP00000424571.2:p.Met224Ile | |
| ENST00000703787.1:n.379G>A | ||
| ENST00000262464.9:c.672G>A MANE Select | ENSP00000262464.4:p.Met224Ile | |
| ENST00000262464.8:c.672G>A | ENSP00000262464.4:p.Met224Ile | |
| ENST00000502468.5:c.672G>A | ENSP00000424753.1:p.Met224Ile | |
| ENST00000508053.5:c.672G>A | ENSP00000424571.1:p.Met224Ile | |
| ENST00000508989.5:c.573G>A | ENSP00000425596.1:p.Met191Ile | |
| ENST00000514742.1:n.1292G>A | ||
| ENST00000619499.4:c.669G>A | ENSP00000482132.1:p.Met223Ile | |
| ENST00000620257.1:c.672G>A | ENSP00000479157.1:p.Met224Ile | |
| NM_001999.3:c.672G>A | NP_001990.2:p.Met224Ile | |
| XM_017009228.2:c.672G>A | XP_016864717.1:p.Met224Ile | |
| NM_001999.4:c.672G>A MANE Select | NP_001990.2:p.Met224Ile |